SORL1, sortilin related receptor 1, 6653

N. diseases: 103; N. variants: 29
Disease: Cerebral atrophy ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1133174
rs1133174 		0.882 0.120 11 121631046 3 prime UTR variant G/A snv 0.55
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2298813
rs2298813 		0.790 0.120 11 121522975 missense variant G/A;T snv 7.2E-02; 4.0E-06
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4935774
rs4935774 		0.925 0.080 11 121451045 intron variant T/C snv 0.32
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2014 2014